Prenatal Diagnosis

New Tools, New Problems
  • Aubrey Milunsky


Prenatal genetic diagnosis provides reassurance to couples at risk that they may selectively have offspring without serious mental retardation and/or chronic or serious-to-fatal disease.1 More babies are born because of the availability of prenatal diagnosis compared to the number of pregnancies terminated. Prenatal diagnosis is a life-giving, not a life-taking, technology. Amniocentesis for genetic diagnosis has been documented as a very low-risk procedure for almost a decade,2 and less than 3% of women undergoing amniocentesis for genetic risks need to face a decision to terminate a pregnancy.1 Abortions as a consequence of prenatal diagnosis account for a minute fraction of 1 % of all abortions performed.


Down Syndrome Prenatal Diagnosis Spina Bifida Huntington Disease Prenatal Detection 
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  1. 1.
    Milunsky, A. (ed.), Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. Plenum Press, New York, 1979.Google Scholar
  2. 2.
    The NICHD National Registry for Amniocentesis Study Group, Midtrimester amniocentesis for prenatal diagnosis: Safety and accuracy, /. Am. Med. Assoc. 236:1471 (1976).Google Scholar
  3. 3.
    Shaw, M., To be or not to be? That is the question, Am. /. Hum. Genet. 36:1 (1984).Google Scholar
  4. 4.
    Milunsky, A., and Annas, G. J. (eds.), Genetics and the Law I ,Plenum Press, New York (1976).Google Scholar
  5. 5.
    Milunsky, A., and Annas, G. J. (eds.), Genetics and the Law II ,Plenum Press, New York (1980).Google Scholar
  6. 6.
    Turpin v. Sortini ,643 P. 2d 954 (Cal., 1982).Google Scholar
  7. 7.
    Harbeson v. Parke-Davis ,656 P.2d 483 (Wash., 1983).Google Scholar
  8. 8.
    Campbell, S., Diagnosis of fetal abnormalities by ultrasound, in Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment (A. Milunsky, ed.), Plenum Press, New York (1979).Google Scholar
  9. 9.
    National Institutes of Health Consensus Development Conference, consensus statement, Diagnostic ultrasound in pregnancy, U.S. Government Printing Office, Washington, DC (1984).Google Scholar
  10. 10.
    Mahoney, M. J., and Hobbins, J. C., Fetoscopy and fetal blood sampling, in Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment (A. Milunsky, ed.), Plenum Press, New York (1979).Google Scholar
  11. 11.
    Mass General Laws chap 112, 12J.Google Scholar
  12. 12.
    Hahnemann, N., and Mohr, J., Antenatal fetal diagnosis in genetic disease, Bull. Eur. Soc, Hum. Genet. 3:47 (1969).Google Scholar
  13. 13.
    Tietung Hospital Department of Obstetrics and Gynecology, Fetal sex prediction by sex chromatin of chorionic villi cells during early pregnancy, Chinese Med. J. 1:117 (1975).Google Scholar
  14. 14.
    Rhine, S. A., and Milunsky, A., Utilization of trophoblast for early prenatal diagnosis, in Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment (A. Milunsky, ed.), Plenum Press, New York (1979).Google Scholar
  15. 15.
    Rodeck, C. H., and Morsman, J. M., First-trimester chorion biopsy, Br. Med. Bull. 39(4):338 (1983).PubMedGoogle Scholar
  16. 16.
    Hsu, L. Y. F., and Perlis, T. E., United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis Prenatal Diagnosis 4:97 (1984).Google Scholar
  17. 17.
    Boué, J., Boué, A., and Lazar, P., Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortion, Teratology 12:11 (1975).PubMedCrossRefGoogle Scholar
  18. 18.
    Milunsky, A., Prenatal detection of neural tube defects.-VI. Experience with 20,000 pregnancies, JAMA 244:2731 (1980).PubMedCrossRefGoogle Scholar
  19. 19.
    Milunsky, A., and Alpert, E., Results and benefits of maternal serum alpha-fetoprotein screening, JAMA 252:1438 (1984).PubMedCrossRefGoogle Scholar
  20. 20.
    Haddow, J. E., and Milunsky, A., Deregulation of screening for alpha-fetoprotein in pregnancy. N. Eng. J. Med. 310:1669 (1984).CrossRefGoogle Scholar
  21. 21.
    Little, P. F. R., DNA analysis and the antenatal diagnosis of hemoglobinopathies, in Genetic Engineering I (R. Williamson, ed.), Academic Press, London (1981).Google Scholar
  22. 22.
    Woo, S. L. C., Kidd, V. J., Pam, Z. K., et al. (eds.), Banbury Conference on Recombinant DNA Applications to Human Disease ,Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, 105 (1983).Google Scholar
  23. 23.
    Murray, J. M., Davies, K. E., Harper, P. S., et al. ,Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy, Nature 300:69 (1982).PubMedCrossRefGoogle Scholar
  24. 24.
    Choo, K. H., Gould, K. G., Rees, D. J. G., et al. ,Molecular cloning of the gene for human anti-haemophilia factor IX, Nature 299:178 (1982).PubMedCrossRefGoogle Scholar
  25. 25.
    Gusella, J. F., Wexler, N. S., Conneally, P. M., et al., A polymorphic DNA marker genetically linked to Huntington’s disease, Nature 306:234 (1983).PubMedCrossRefGoogle Scholar
  26. 26.
    Woo, S. L. C., Lidsky, A. S., Guttler, F., et al. ,Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria, Nature 306:5939:151 (1983).PubMedCrossRefGoogle Scholar
  27. 27.
    Honey, N. K., and Shows, T. B., The tumor phenotype and the human gene map, Cancer Genet. Cytogenet. 10(3):287 (1983).CrossRefGoogle Scholar
  28. 28.
    Rodeck, C. H., Mibashan, R. S., Abramowicz, J., and Campbell, S., Selective feticide of the affected twin by fetoscopic air embolism, Prenatal Diagnosis 2:189 (1982).PubMedCrossRefGoogle Scholar

Copyright information

© Aubrey Milunsky and George J. Annas 1985

Authors and Affiliations

  • Aubrey Milunsky
    • 1
  1. 1.Center for Human GeneticsBoston University School of MedicineBostonUSA

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